Parents

Individuals with developmental delay and/or intellectual disabilities. They may or may not have organ anomalies. The overall severity can vary a lot, from severe organ anomalies that are detected during pregnancy to developmental delay only which occurs in childhood. It is a rare condition and not many patients are described yet. The condition is X-linked which means that it is caused by a change in KIF4A which is on the X-chromosome. A male presents with clinical signs, a female usually is a healthy carrier or mildly affected. The condition can be transmitted by a carrier mother.